De Novo VPS4A Mutations Cause Multisystem Disease with Abnormal Neurodevelopment

The endosomal sorting complexes required for transport (ESCRTs) are essential for multiple membrane modeling and membrane-independent cellular processes. Here we describe six unrelated individuals with de novo missense variants affecting the ATPase domain of VPS4A, a critical enzyme regulating ESCRT...

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izdano v:Am J Hum Genet
Main Authors: Rodger, Catherine, Flex, Elisabetta, Allison, Rachel J., Sanchis-Juan, Alba, Hasenahuer, Marcia A., Cecchetti, Serena, French, Courtney E., Edgar, James R., Carpentieri, Giovanna, Ciolfi, Andrea, Pantaleoni, Francesca, Bruselles, Alessandro, Onesimo, Roberta, Zampino, Giuseppe, Marcon, Francesca, Siniscalchi, Ester, Lees, Melissa, Krishnakumar, Deepa, McCann, Emma, Yosifova, Dragana, Jarvis, Joanna, Kruer, Michael C., Marks, Warren, Campbell, Jonathan, Allen, Louise E., Gustincich, Stefano, Raymond, F. Lucy, Tartaglia, Marco, Reid, Evan
Format: Artigo
Jezik:Inglês
Izdano: Elsevier 2020
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Article
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC7820634/
https://ncbi.nlm.nih.gov/pubmed/33186545
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2020.10.012
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